Incidental Mutation 'R8558:Abcc3'
| ID |
660873 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Abcc3
|
| Ensembl Gene |
ENSMUSG00000020865 |
| Gene Name |
ATP-binding cassette, sub-family C member 3 |
| Synonyms |
1700019L09Rik, MRP3 |
| MMRRC Submission |
068521-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8558 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
94234121-94283823 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 94242623 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136343
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021231]
[ENSMUST00000178136]
[ENSMUST00000178136]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021231
|
| SMART Domains |
Protein: ENSMUSP00000021231
Gene: ENSMUSG00000020865
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
35 |
57 |
N/A |
INTRINSIC |
|
transmembrane domain
|
64 |
86 |
N/A |
INTRINSIC |
|
transmembrane domain
|
101 |
123 |
N/A |
INTRINSIC |
|
transmembrane domain
|
130 |
152 |
N/A |
INTRINSIC |
|
transmembrane domain
|
172 |
190 |
N/A |
INTRINSIC |
|
Pfam:ABC_membrane
|
310 |
581 |
4.4e-43 |
PFAM |
|
AAA
|
652 |
827 |
2.77e-10 |
SMART |
|
Pfam:ABC_membrane
|
963 |
1235 |
3.2e-46 |
PFAM |
|
AAA
|
1310 |
1495 |
2.66e-12 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000178136
|
| SMART Domains |
Protein: ENSMUSP00000136343
Gene: ENSMUSG00000020865
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
35 |
57 |
N/A |
INTRINSIC |
|
transmembrane domain
|
64 |
86 |
N/A |
INTRINSIC |
|
transmembrane domain
|
101 |
123 |
N/A |
INTRINSIC |
|
transmembrane domain
|
130 |
152 |
N/A |
INTRINSIC |
|
transmembrane domain
|
172 |
190 |
N/A |
INTRINSIC |
|
Pfam:ABC_membrane
|
310 |
581 |
4.8e-34 |
PFAM |
|
AAA
|
652 |
827 |
2.77e-10 |
SMART |
|
coiled coil region
|
854 |
883 |
N/A |
INTRINSIC |
|
Pfam:ABC_membrane
|
967 |
1236 |
8.6e-48 |
PFAM |
|
AAA
|
1311 |
1496 |
2.66e-12 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000178136
|
| SMART Domains |
Protein: ENSMUSP00000136343
Gene: ENSMUSG00000020865
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
35 |
57 |
N/A |
INTRINSIC |
|
transmembrane domain
|
64 |
86 |
N/A |
INTRINSIC |
|
transmembrane domain
|
101 |
123 |
N/A |
INTRINSIC |
|
transmembrane domain
|
130 |
152 |
N/A |
INTRINSIC |
|
transmembrane domain
|
172 |
190 |
N/A |
INTRINSIC |
|
Pfam:ABC_membrane
|
310 |
581 |
4.8e-34 |
PFAM |
|
AAA
|
652 |
827 |
2.77e-10 |
SMART |
|
coiled coil region
|
854 |
883 |
N/A |
INTRINSIC |
|
Pfam:ABC_membrane
|
967 |
1236 |
8.6e-48 |
PFAM |
|
AAA
|
1311 |
1496 |
2.66e-12 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. The specific function of this protein has not yet been determined; however, this protein may play a role in the transport of biliary and intestinal excretion of organic anions. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene exhibit increased liver bile acid levels after bile duct ligation [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017N19Rik |
A |
T |
10: 100,430,497 (GRCm39) |
R51S |
probably benign |
Het |
| 1700067P10Rik |
G |
T |
17: 48,400,849 (GRCm39) |
E45* |
probably null |
Het |
| Abcb5 |
T |
C |
12: 118,841,566 (GRCm39) |
T960A |
probably benign |
Het |
| Adamtsl3 |
A |
T |
7: 82,077,600 (GRCm39) |
D95V |
possibly damaging |
Het |
| Ash1l |
T |
A |
3: 88,891,713 (GRCm39) |
S1197R |
probably damaging |
Het |
| BC034090 |
T |
A |
1: 155,097,085 (GRCm39) |
H671L |
possibly damaging |
Het |
| Bltp1 |
T |
A |
3: 37,102,750 (GRCm39) |
M1443K |
|
Het |
| Btnl9 |
T |
C |
11: 49,071,619 (GRCm39) |
E68G |
probably benign |
Het |
| C1qtnf1 |
A |
T |
11: 118,339,149 (GRCm39) |
Y273F |
probably damaging |
Het |
| C4b |
A |
T |
17: 34,955,541 (GRCm39) |
C714S |
probably damaging |
Het |
| Carmil1 |
G |
A |
13: 24,209,863 (GRCm39) |
T1204I |
probably benign |
Het |
| Cdk12 |
T |
C |
11: 98,101,915 (GRCm39) |
L591P |
unknown |
Het |
| Ces2f |
T |
A |
8: 105,679,758 (GRCm39) |
L417* |
probably null |
Het |
| Chl1 |
T |
A |
6: 103,685,390 (GRCm39) |
S810R |
probably benign |
Het |
| Ckap2 |
A |
G |
8: 22,658,811 (GRCm39) |
V644A |
possibly damaging |
Het |
| Ctdsp2 |
T |
A |
10: 126,829,746 (GRCm39) |
V126E |
probably damaging |
Het |
| Dok6 |
G |
T |
18: 89,492,066 (GRCm39) |
H170Q |
probably damaging |
Het |
| Dynlrb1 |
T |
C |
2: 155,084,728 (GRCm39) |
|
probably null |
Het |
| Eif5b |
T |
C |
1: 38,083,795 (GRCm39) |
L757S |
probably damaging |
Het |
| Epas1 |
A |
C |
17: 87,116,896 (GRCm39) |
T189P |
possibly damaging |
Het |
| Epha10 |
C |
A |
4: 124,788,777 (GRCm39) |
N283K |
|
Het |
| Epha5 |
C |
A |
5: 84,206,975 (GRCm39) |
G853C |
probably damaging |
Het |
| Gapvd1 |
A |
T |
2: 34,594,493 (GRCm39) |
H831Q |
probably damaging |
Het |
| Gcnt3 |
T |
A |
9: 69,941,996 (GRCm39) |
K191* |
probably null |
Het |
| Gm14226 |
T |
A |
2: 154,866,909 (GRCm39) |
S289T |
probably benign |
Het |
| Gm4846 |
T |
A |
1: 166,314,674 (GRCm39) |
D323V |
probably damaging |
Het |
| Golga3 |
G |
T |
5: 110,356,421 (GRCm39) |
R1036L |
possibly damaging |
Het |
| Gopc |
T |
C |
10: 52,229,580 (GRCm39) |
Q213R |
probably damaging |
Het |
| Hrh1 |
G |
A |
6: 114,457,564 (GRCm39) |
V282M |
probably benign |
Het |
| Ighv5-4 |
T |
C |
12: 113,561,078 (GRCm39) |
Y114C |
probably damaging |
Het |
| Igkv10-94 |
A |
T |
6: 68,681,636 (GRCm39) |
I68N |
probably damaging |
Het |
| Kcnj3 |
A |
G |
2: 55,336,875 (GRCm39) |
D247G |
possibly damaging |
Het |
| Lcn6 |
C |
A |
2: 25,570,718 (GRCm39) |
S102Y |
probably damaging |
Het |
| Matk |
C |
A |
10: 81,096,765 (GRCm39) |
H232N |
probably benign |
Het |
| Mcm9 |
C |
T |
10: 53,492,068 (GRCm39) |
V366I |
probably benign |
Het |
| Nadk |
A |
G |
4: 155,669,844 (GRCm39) |
I176V |
probably benign |
Het |
| Nlrp12 |
A |
G |
7: 3,298,111 (GRCm39) |
L20P |
probably damaging |
Het |
| Oga |
T |
C |
19: 45,746,511 (GRCm39) |
S763G |
probably benign |
Het |
| Or10ag56 |
A |
T |
2: 87,139,583 (GRCm39) |
Q170L |
probably benign |
Het |
| Or1e21 |
G |
A |
11: 73,344,309 (GRCm39) |
S243F |
probably damaging |
Het |
| Or4a72 |
A |
G |
2: 89,405,329 (GRCm39) |
L247P |
probably damaging |
Het |
| Pcdhgb6 |
T |
A |
18: 37,877,237 (GRCm39) |
D648E |
probably damaging |
Het |
| Pkd1l3 |
A |
T |
8: 110,362,012 (GRCm39) |
N1018I |
probably damaging |
Het |
| Plch2 |
T |
C |
4: 155,083,391 (GRCm39) |
K516E |
probably damaging |
Het |
| Pmpca |
G |
C |
2: 26,285,046 (GRCm39) |
E424Q |
possibly damaging |
Het |
| Pnma2 |
C |
T |
14: 67,153,972 (GRCm39) |
A132V |
probably benign |
Het |
| Prkn |
T |
C |
17: 11,456,472 (GRCm39) |
S99P |
probably benign |
Het |
| Prune2 |
A |
G |
19: 17,099,602 (GRCm39) |
E1702G |
probably damaging |
Het |
| Qars1 |
T |
A |
9: 108,392,422 (GRCm39) |
H756Q |
probably benign |
Het |
| Rab5a |
A |
G |
17: 53,790,877 (GRCm39) |
|
probably benign |
Het |
| Rars2 |
A |
G |
4: 34,657,199 (GRCm39) |
D515G |
probably damaging |
Het |
| Rpe65 |
T |
A |
3: 159,320,429 (GRCm39) |
C329S |
probably damaging |
Het |
| Rps6ka2 |
G |
A |
17: 7,523,316 (GRCm39) |
V231M |
possibly damaging |
Het |
| Rsf1 |
GCG |
GCGACGGCGCCG |
7: 97,229,114 (GRCm39) |
|
probably benign |
Het |
| Scrt1 |
G |
T |
15: 76,403,843 (GRCm39) |
S49* |
probably null |
Het |
| Sec23b |
C |
G |
2: 144,428,308 (GRCm39) |
D640E |
possibly damaging |
Het |
| Setdb1 |
C |
T |
3: 95,261,979 (GRCm39) |
V96M |
possibly damaging |
Het |
| Sik3 |
C |
A |
9: 46,066,746 (GRCm39) |
A175E |
probably damaging |
Het |
| Smarcad1 |
A |
G |
6: 65,060,908 (GRCm39) |
K463E |
probably benign |
Het |
| Sobp |
A |
C |
10: 43,003,888 (GRCm39) |
C154G |
probably damaging |
Het |
| Sox6 |
A |
G |
7: 115,141,033 (GRCm39) |
S482P |
probably benign |
Het |
| Spen |
C |
T |
4: 141,197,681 (GRCm39) |
A3396T |
probably benign |
Het |
| Spink11 |
T |
A |
18: 44,324,748 (GRCm39) |
R75* |
probably null |
Het |
| Sptb |
T |
C |
12: 76,659,561 (GRCm39) |
H1113R |
probably benign |
Het |
| Sypl2 |
A |
T |
3: 108,125,004 (GRCm39) |
V119E |
probably damaging |
Het |
| Tbc1d24 |
T |
C |
17: 24,427,903 (GRCm39) |
S20G |
unknown |
Het |
| Tektl1 |
T |
C |
10: 78,583,035 (GRCm39) |
K450E |
probably damaging |
Het |
| Top2a |
A |
T |
11: 98,912,549 (GRCm39) |
V106D |
probably damaging |
Het |
| Tspyl4 |
G |
C |
10: 34,174,261 (GRCm39) |
R251P |
probably damaging |
Het |
| Ttc21a |
T |
A |
9: 119,787,835 (GRCm39) |
L801Q |
probably damaging |
Het |
| Vgll3 |
A |
G |
16: 65,624,844 (GRCm39) |
E64G |
probably damaging |
Het |
| Vmn2r30 |
A |
G |
7: 7,315,655 (GRCm39) |
I726T |
possibly damaging |
Het |
| Vmn2r81 |
T |
C |
10: 79,106,467 (GRCm39) |
S482P |
possibly damaging |
Het |
| Wasf1 |
T |
G |
10: 40,806,648 (GRCm39) |
M97R |
possibly damaging |
Het |
| Wdr33 |
T |
A |
18: 31,962,947 (GRCm39) |
M98K |
probably benign |
Het |
| Wdr73 |
G |
A |
7: 80,548,254 (GRCm39) |
T95I |
probably damaging |
Het |
|
| Other mutations in Abcc3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01147:Abcc3
|
APN |
11 |
94,234,611 (GRCm39) |
splice site |
probably benign |
|
|
IGL01154:Abcc3
|
APN |
11 |
94,250,058 (GRCm39) |
splice site |
probably benign |
|
|
IGL01353:Abcc3
|
APN |
11 |
94,242,934 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL02553:Abcc3
|
APN |
11 |
94,242,750 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02795:Abcc3
|
APN |
11 |
94,252,468 (GRCm39) |
splice site |
probably benign |
|
|
IGL02928:Abcc3
|
APN |
11 |
94,252,132 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
IGL02964:Abcc3
|
APN |
11 |
94,242,636 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL03006:Abcc3
|
APN |
11 |
94,259,421 (GRCm39) |
missense |
probably benign |
0.18 |
|
IGL03345:Abcc3
|
APN |
11 |
94,250,163 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0200:Abcc3
|
UTSW |
11 |
94,245,900 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0377:Abcc3
|
UTSW |
11 |
94,265,922 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0812:Abcc3
|
UTSW |
11 |
94,266,028 (GRCm39) |
splice site |
probably benign |
|
|
R1269:Abcc3
|
UTSW |
11 |
94,248,210 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1270:Abcc3
|
UTSW |
11 |
94,248,210 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1375:Abcc3
|
UTSW |
11 |
94,243,042 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R1506:Abcc3
|
UTSW |
11 |
94,248,144 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1525:Abcc3
|
UTSW |
11 |
94,252,062 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1842:Abcc3
|
UTSW |
11 |
94,250,438 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1868:Abcc3
|
UTSW |
11 |
94,254,889 (GRCm39) |
missense |
probably benign |
0.06 |
|
R2069:Abcc3
|
UTSW |
11 |
94,255,243 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2132:Abcc3
|
UTSW |
11 |
94,258,426 (GRCm39) |
missense |
probably benign |
0.18 |
|
R2257:Abcc3
|
UTSW |
11 |
94,254,420 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2395:Abcc3
|
UTSW |
11 |
94,248,132 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R2930:Abcc3
|
UTSW |
11 |
94,252,636 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3081:Abcc3
|
UTSW |
11 |
94,247,802 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3824:Abcc3
|
UTSW |
11 |
94,259,446 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4385:Abcc3
|
UTSW |
11 |
94,259,065 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4425:Abcc3
|
UTSW |
11 |
94,236,870 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4464:Abcc3
|
UTSW |
11 |
94,249,612 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4696:Abcc3
|
UTSW |
11 |
94,241,817 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4877:Abcc3
|
UTSW |
11 |
94,258,421 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5172:Abcc3
|
UTSW |
11 |
94,266,434 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5586:Abcc3
|
UTSW |
11 |
94,255,247 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5682:Abcc3
|
UTSW |
11 |
94,283,723 (GRCm39) |
missense |
probably benign |
0.31 |
|
R5719:Abcc3
|
UTSW |
11 |
94,241,894 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5816:Abcc3
|
UTSW |
11 |
94,234,563 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5919:Abcc3
|
UTSW |
11 |
94,248,132 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6222:Abcc3
|
UTSW |
11 |
94,259,431 (GRCm39) |
missense |
probably benign |
0.21 |
|
R6264:Abcc3
|
UTSW |
11 |
94,264,824 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6526:Abcc3
|
UTSW |
11 |
94,250,198 (GRCm39) |
missense |
probably benign |
0.21 |
|
R6782:Abcc3
|
UTSW |
11 |
94,249,776 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6889:Abcc3
|
UTSW |
11 |
94,266,381 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R6953:Abcc3
|
UTSW |
11 |
94,265,661 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7054:Abcc3
|
UTSW |
11 |
94,256,051 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7131:Abcc3
|
UTSW |
11 |
94,255,857 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7210:Abcc3
|
UTSW |
11 |
94,264,767 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7283:Abcc3
|
UTSW |
11 |
94,247,873 (GRCm39) |
missense |
probably benign |
0.44 |
|
R7284:Abcc3
|
UTSW |
11 |
94,247,873 (GRCm39) |
missense |
probably benign |
0.44 |
|
R7285:Abcc3
|
UTSW |
11 |
94,247,873 (GRCm39) |
missense |
probably benign |
0.44 |
|
R7287:Abcc3
|
UTSW |
11 |
94,247,873 (GRCm39) |
missense |
probably benign |
0.44 |
|
R7320:Abcc3
|
UTSW |
11 |
94,258,471 (GRCm39) |
missense |
probably benign |
0.33 |
|
R7450:Abcc3
|
UTSW |
11 |
94,252,521 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7469:Abcc3
|
UTSW |
11 |
94,259,014 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7794:Abcc3
|
UTSW |
11 |
94,249,697 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7851:Abcc3
|
UTSW |
11 |
94,250,486 (GRCm39) |
nonsense |
probably null |
|
|
R7861:Abcc3
|
UTSW |
11 |
94,248,075 (GRCm39) |
missense |
probably null |
1.00 |
|
R8036:Abcc3
|
UTSW |
11 |
94,236,818 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R8214:Abcc3
|
UTSW |
11 |
94,254,344 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8447:Abcc3
|
UTSW |
11 |
94,254,886 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R8733:Abcc3
|
UTSW |
11 |
94,249,627 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8821:Abcc3
|
UTSW |
11 |
94,241,787 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8831:Abcc3
|
UTSW |
11 |
94,241,787 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9187:Abcc3
|
UTSW |
11 |
94,255,913 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9315:Abcc3
|
UTSW |
11 |
94,265,576 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R9519:Abcc3
|
UTSW |
11 |
94,264,805 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R9658:Abcc3
|
UTSW |
11 |
94,263,703 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R9686:Abcc3
|
UTSW |
11 |
94,247,867 (GRCm39) |
missense |
probably benign |
0.30 |
|
R9722:Abcc3
|
UTSW |
11 |
94,250,072 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9723:Abcc3
|
UTSW |
11 |
94,250,725 (GRCm39) |
missense |
probably benign |
0.03 |
|
X0064:Abcc3
|
UTSW |
11 |
94,254,324 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1176:Abcc3
|
UTSW |
11 |
94,252,101 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1177:Abcc3
|
UTSW |
11 |
94,247,834 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAACCAGGTCCCAAGTTCCTTAAG -3'
(R):5'- AAACCTGGAAGTGCCACTGAC -3'
Sequencing Primer
(F):5'- acaggacagagggagtt -3'
(R):5'- AGTGCCACTGACAGCCCTTC -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation